Mutagenetix > Incidental Mutation

Incidental Mutation 'R8964:Rfx2'

682653

Institutional Source

Beutler Lab

Gene Symbol

Rfx2

Ensembl Gene

ENSMUSG00000024206

Gene Name

regulatory factor X, 2 (influences HLA class II expression)

Synonyms

5430432H19Rik

MMRRC Submission

068798-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.786) question?

Stock #

R8964 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57082897-57138013 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 57093696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 266 (R266L)

Ref Sequence

ENSEMBL: ENSMUSP00000002444 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002444] [ENSMUST00000086801]

AlphaFold

P48379

Predicted Effect

probably damaging
Transcript: ENSMUST00000002444
AA Change: R266L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000002444
Gene: ENSMUSG00000024206
AA Change: R266L

Domain	Start	End	E-Value	Type
Pfam:RFX1_trans_act	4	149	1.9e-50	PFAM
Pfam:RFX_DNA_binding	192	269	4.3e-36	PFAM
Blast:HisKA	479	542	1e-31	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000086801
AA Change: R241L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000084010
Gene: ENSMUSG00000024206
AA Change: R241L

Domain	Start	End	E-Value	Type
Pfam:RFX1_trans_act	1	151	6.8e-56	PFAM
Pfam:RFX_DNA_binding	161	246	6e-41	PFAM
Blast:HisKA	454	517	1e-31	BLAST

Meta Mutation Damage Score

0.6094

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

100% (80/80)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X3, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with other RFX family members. This protein can bind to cis elements in the promoter of the IL-5 receptor alpha gene. Two transcript variants encoding different isoforms have been described for this gene, and both variants utilize alternative polyadenylation sites. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele are viable and lack an obvious embryonic phenotype but exhibit male infertility associated with a defect in spermatid maturation at or before the round and elongating spermatid stage. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	C	T	7: 130,740,716 (GRCm39)	V167M	probably benign	Het
Abca6	G	A	11: 110,139,363 (GRCm39)	P37L	probably benign	Het
Abca9	A	T	11: 110,038,075 (GRCm39)	Y490*	probably null	Het
Abcb11	A	G	2: 69,117,061 (GRCm39)	V529A	possibly damaging	Het
Acox2	G	T	14: 8,243,768 (GRCm38)	Y529*	probably null	Het
Acte1	A	G	7: 143,423,030 (GRCm39)	T39A	probably benign	Het
Adck2	G	T	6: 39,551,083 (GRCm39)		probably benign	Het
Agxt	T	A	1: 93,072,869 (GRCm39)	C409S	possibly damaging	Het
Ahsa1	T	A	12: 87,318,131 (GRCm39)	I164N	probably damaging	Het
Arhgef1	A	G	7: 24,622,462 (GRCm39)	E647G	probably damaging	Het
Axin1	T	G	17: 26,361,718 (GRCm39)	F21V	probably damaging	Het
B3galnt1	A	G	3: 69,482,589 (GRCm39)	I224T	probably damaging	Het
Bche	T	C	3: 73,608,406 (GRCm39)	K340R	probably benign	Het
Bpifb5	T	A	2: 154,072,198 (GRCm39)	W302R	possibly damaging	Het
Cd72	G	A	4: 43,450,218 (GRCm39)	T230I	probably damaging	Het
Cdc42ep4	T	A	11: 113,620,278 (GRCm39)	M38L	probably damaging	Het
Cdcp1	G	A	9: 123,012,561 (GRCm39)	Q329*	probably null	Het
Clps	C	A	17: 28,777,730 (GRCm39)		probably benign	Het
Cluap1	A	G	16: 3,729,334 (GRCm39)		probably benign	Het
CN725425	C	T	15: 91,119,972 (GRCm39)	S31L	possibly damaging	Het
Cnbp	T	C	6: 87,821,086 (GRCm39)	N158D	probably benign	Het
Crebbp	A	G	16: 3,909,753 (GRCm39)	F1545S	probably damaging	Het
Cyp39a1	A	T	17: 44,002,558 (GRCm39)	T258S	probably benign	Het
Dclk2	T	C	3: 86,743,698 (GRCm39)	D257G	probably damaging	Het
Dock7	A	T	4: 98,949,476 (GRCm39)	D455E		Het
Ehbp1	G	A	11: 22,101,154 (GRCm39)	Q259*	probably null	Het
Eif3a	A	T	19: 60,751,630 (GRCm39)	D1228E	unknown	Het
Has2	A	T	15: 56,531,061 (GRCm39)	D551E	probably damaging	Het
Herc1	T	A	9: 66,352,872 (GRCm39)	N2119K	probably damaging	Het
Hsdl1	C	T	8: 120,292,899 (GRCm39)	A179T	probably benign	Het
Htt	T	A	5: 35,062,720 (GRCm39)	M2818K	probably benign	Het
Il18bp	A	G	7: 101,665,591 (GRCm39)	S80P	possibly damaging	Het
Ints10	A	G	8: 69,264,631 (GRCm39)	M455V	probably benign	Het
Ipcef1	T	C	10: 6,869,789 (GRCm39)	T255A	possibly damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lrba	T	A	3: 86,258,552 (GRCm39)	D1346E	probably benign	Het
Mdm1	T	A	10: 118,002,585 (GRCm39)	D635E	probably damaging	Het
Met	C	T	6: 17,527,144 (GRCm39)	P532S	probably damaging	Het
Nlrc5	T	A	8: 95,232,116 (GRCm39)	M1314K	possibly damaging	Het
Notch1	A	T	2: 26,371,062 (GRCm39)	S341R	possibly damaging	Het
Nr3c2	T	G	8: 77,881,941 (GRCm39)	L670V	probably damaging	Het
Nuak1	C	T	10: 84,210,734 (GRCm39)	M451I	probably benign	Het
Nubp1	G	A	16: 10,238,894 (GRCm39)	V170I	probably benign	Het
Or5v1	G	A	17: 37,809,664 (GRCm39)	G41S	probably damaging	Het
Or9g8	T	A	2: 85,606,964 (GRCm39)	I12N	probably damaging	Het
Pamr1	T	C	2: 102,464,811 (GRCm39)	V320A	possibly damaging	Het
Pcdhb11	T	A	18: 37,556,660 (GRCm39)	N663K	probably benign	Het
Pcnx1	G	A	12: 82,039,812 (GRCm39)	G1400D		Het
Pdxk	A	T	10: 78,283,771 (GRCm39)	V141E	probably benign	Het
Pex5	A	T	6: 124,375,740 (GRCm39)	N520K	probably benign	Het
Pklr	T	C	3: 89,050,036 (GRCm39)	V337A	probably benign	Het
Polb	T	C	8: 23,143,341 (GRCm39)	D17G	probably damaging	Het
Ppp1r9b	T	C	11: 94,882,705 (GRCm39)	L111P	probably damaging	Het
Prl3d1	A	G	13: 27,283,926 (GRCm39)	E165G	possibly damaging	Het
Prpf40a	A	G	2: 53,035,906 (GRCm39)	F657S	probably damaging	Het
Ptgs2	C	T	1: 149,980,798 (GRCm39)	R455C	probably damaging	Het
Pzp	T	A	6: 128,464,462 (GRCm39)	D1355V	probably benign	Het
Rasl12	T	A	9: 65,314,913 (GRCm39)	V72D	probably damaging	Het
Rnaseh2a	T	C	8: 85,686,434 (GRCm39)	D204G	probably benign	Het
S1pr3	A	C	13: 51,573,248 (GRCm39)	K143T	probably damaging	Het
Sdr39u1	C	A	14: 56,135,170 (GRCm39)	A258S	possibly damaging	Het
Sntb2	T	A	8: 107,707,808 (GRCm39)	S191T	possibly damaging	Het
Sod3	T	A	5: 52,525,696 (GRCm39)	F132I	probably damaging	Het
Sorcs2	C	T	5: 36,386,511 (GRCm39)	V176I	possibly damaging	Het
Syne1	T	C	10: 5,060,872 (GRCm39)	I7256V		Het
Tbc1d22b	A	G	17: 29,819,202 (GRCm39)	E459G	probably damaging	Het
Tbkbp1	A	G	11: 97,037,169 (GRCm39)	S278P	probably damaging	Het
Thoc5	A	T	11: 4,860,647 (GRCm39)	E245D	possibly damaging	Het
Tmc7	G	A	7: 118,160,228 (GRCm39)	P203L	probably benign	Het
Tns2	T	C	15: 102,011,553 (GRCm39)	L11P	possibly damaging	Het
Trip11	A	G	12: 101,811,315 (GRCm39)		probably null	Het
Ttn	T	G	2: 76,551,309 (GRCm39)	Y31361S	probably damaging	Het
Vars2	T	C	17: 35,970,699 (GRCm39)	E678G	possibly damaging	Het
Vav1	C	A	17: 57,606,122 (GRCm39)	H249N	probably benign	Het
Vmn2r9	T	A	5: 108,996,031 (GRCm39)	I206L	probably benign	Het
Vps4a	T	C	8: 107,771,686 (GRCm39)	S410P	probably damaging	Het
Wdr82	T	C	9: 106,053,861 (GRCm39)	Y71H	possibly damaging	Het
Zfand1	A	G	3: 10,413,631 (GRCm39)	Y19H	probably benign	Het
Zfp365	A	T	10: 67,745,088 (GRCm39)	I230N	probably damaging	Het
Zfp763	T	C	17: 33,240,710 (GRCm39)	T40A	probably benign	Het
Zfp788	A	T	7: 41,297,003 (GRCm39)	D51V	probably damaging	Het

Other mutations in Rfx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01294:Rfx2	APN	17	57,090,657 (GRCm39)	missense	probably damaging	1.00
IGL01296:Rfx2	APN	17	57,115,317 (GRCm39)	start codon destroyed	possibly damaging	0.81
IGL01488:Rfx2	APN	17	57,112,398 (GRCm39)	missense	probably damaging	1.00
IGL01705:Rfx2	APN	17	57,092,303 (GRCm39)	missense	possibly damaging	0.88
IGL02389:Rfx2	APN	17	57,115,325 (GRCm39)	splice site	probably benign
IGL02601:Rfx2	APN	17	57,092,354 (GRCm39)	missense	possibly damaging	0.75
IGL02609:Rfx2	APN	17	57,112,404 (GRCm39)	missense	probably benign	0.00
R0066:Rfx2	UTSW	17	57,093,736 (GRCm39)	splice site	probably benign
R0066:Rfx2	UTSW	17	57,093,736 (GRCm39)	splice site	probably benign
R0197:Rfx2	UTSW	17	57,110,722 (GRCm39)	missense	probably damaging	0.99
R0370:Rfx2	UTSW	17	57,106,308 (GRCm39)	missense	probably benign	0.03
R0413:Rfx2	UTSW	17	57,091,418 (GRCm39)	splice site	probably benign
R0622:Rfx2	UTSW	17	57,084,071 (GRCm39)	missense	probably damaging	0.99
R0883:Rfx2	UTSW	17	57,110,722 (GRCm39)	missense	probably damaging	0.99
R1429:Rfx2	UTSW	17	57,111,369 (GRCm39)	missense	probably damaging	0.97
R1439:Rfx2	UTSW	17	57,094,720 (GRCm39)	missense	probably damaging	1.00
R1569:Rfx2	UTSW	17	57,111,326 (GRCm39)	missense	possibly damaging	0.63
R1654:Rfx2	UTSW	17	57,115,263 (GRCm39)	missense	probably benign	0.00
R1751:Rfx2	UTSW	17	57,091,754 (GRCm39)	missense	probably benign	0.01
R1816:Rfx2	UTSW	17	57,115,305 (GRCm39)	nonsense	probably null
R2282:Rfx2	UTSW	17	57,110,722 (GRCm39)	missense	probably damaging	0.99
R3408:Rfx2	UTSW	17	57,110,526 (GRCm39)	missense	probably benign	0.00
R3962:Rfx2	UTSW	17	57,092,302 (GRCm39)	missense	probably damaging	0.99
R4415:Rfx2	UTSW	17	57,094,733 (GRCm39)	missense	possibly damaging	0.95
R4876:Rfx2	UTSW	17	57,091,706 (GRCm39)	missense	probably benign	0.00
R4883:Rfx2	UTSW	17	57,090,747 (GRCm39)	missense	probably damaging	0.98
R5588:Rfx2	UTSW	17	57,086,890 (GRCm39)	missense	possibly damaging	0.69
R5766:Rfx2	UTSW	17	57,110,587 (GRCm39)	missense	probably benign	0.02
R5798:Rfx2	UTSW	17	57,111,362 (GRCm39)	missense	possibly damaging	0.89
R5931:Rfx2	UTSW	17	57,087,778 (GRCm39)	missense	probably damaging	0.99
R6061:Rfx2	UTSW	17	57,084,473 (GRCm39)	missense	possibly damaging	0.86
R6466:Rfx2	UTSW	17	57,091,397 (GRCm39)	missense	probably benign	0.13
R6800:Rfx2	UTSW	17	57,087,804 (GRCm39)	missense	probably damaging	0.99
R7329:Rfx2	UTSW	17	57,110,681 (GRCm39)	missense	probably benign	0.05
R7476:Rfx2	UTSW	17	57,110,527 (GRCm39)	missense	probably benign	0.31
R8159:Rfx2	UTSW	17	57,110,605 (GRCm39)	missense	probably benign	0.43
R8274:Rfx2	UTSW	17	57,111,348 (GRCm39)	missense	probably benign	0.00
R8838:Rfx2	UTSW	17	57,087,877 (GRCm39)	missense	possibly damaging	0.91
R9663:Rfx2	UTSW	17	57,087,895 (GRCm39)	missense	possibly damaging	0.67
R9786:Rfx2	UTSW	17	57,087,890 (GRCm39)	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- CACTGAGTGTCTGTCCAAACAC -3'
(R):5'- AGGACATCCCAGAGCCTTTATC -3'

Sequencing Primer
(F):5'- TGAGTGTCTGTCCAAACACACTGG -3'
(R):5'- CCTTTATCACACTAACAAGAGAGGGG -3'

Posted On

2021-10-11